| Issue Date | Title | Author(s) |
| 2021-02-17 | A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. | Coignard, J; Lush, M; Beesley, J; O'Mara, TA; Dennis, J; Tyrer, JP; Barnes, DR; McGuffog, L; Leslie, G; Bolla, MK; Adank, MA; Agata, S; Ahearn, T; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Arndt, V; Arnold, N; Aronson, KJ; Arun, BK; Augustinsson, A; Azzollini, J; Barrowdale, D; Baynes, C; Becher, H; Bermisheva, M; Bernstein, L; Białkowska, K; Blomqvist, C; Bojesen, SE; Bonanni, B; Borg, A; Brauch, H; Brenner, H; Burwinkel, B; Buys, SS; Caldés, T; Caligo, MA; Campa, D; Carter, BD; Castelao, JE; Chang-Claude, J; Chanock, SJ; Chung, WK; Claes, KBM; Clarke, CL; GEMO Study Collaborators,; EMBRACE Collaborators,; Collée, JM; Conroy, DM; Czene, K; Daly, MB; Devilee, P; Diez, O; Ding, YC; Domchek, SM; Dörk, T; Dos-Santos-Silva, I; Dunning, AM; Dwek, M; Eccles, DM; Eliassen, AH; Engel, C; Eriksson, M; Evans, DG; Fasching, PA; Flyger, H; Fostira, F; Friedman, E; Fritschi, L; Frost, D; Gago-Dominguez, M; Gapstur, SM; Garber, J; Garcia-Barberan, V; García-Closas, M; García-Sáenz, JA; Gaudet, MM; Gayther, SA; Gehrig, A; Georgoulias, V; Giles, GG; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Greene, MH; Guénel, P; Haeberle, L; Hahnen, E; Haiman, CA; Håkansson, N; Hall, P; Hamann, U; Harrington, PA; Hart, SN; He, W; Hogervorst, FBL; Hollestelle, A; Hopper, JL; Horcasitas, DJ; Hulick, PJ; Hunter, DJ; Imyanitov, EN; KConFab Investigators,; HEBON Investigators,; ABCTB Investigators,; Jager, A; Jakubowska, A; James, PA; Jensen, UB; John, EM; Jones, ME; Kaaks, R; Kapoor, PM; Karlan, BY; Keeman, R; Khusnutdinova, E; Kiiski, JI; Ko, Y-D; Kosma, V-M; Kraft, P; Kurian, AW; Laitman, Y; Lambrechts, D; Le Marchand, L; Lester, J; Lesueur, F; Lindstrom, T; Lopez-Fernández, A; Loud, JT; Luccarini, C; Mannermaa, A; Manoukian, S; Margolin, S; Martens, JWM; Mebirouk, N; Meindl, A; Miller, A; Milne, RL; Montagna, M; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nielsen, FC; O'Brien, KM; Olopade, OI; Olson, JE; Olsson, H; Osorio, A; Ottini, L; Park-Simon, T-W; Parsons, MT; Pedersen, IS; Peshkin, B; Peterlongo, P; Peto, J; Pharoah, PDP; Phillips, K-A; Polley, EC; Poppe, B; Presneau, N; Pujana, MA; Punie, K; Radice, P; Rantala, J; Rashid, MU; Rennert, G; Rennert, HS; Robson, M; Romero, A; Rossing, M; Saloustros, E; Sandler, DP; Santella, R; Scheuner, MT; Schmidt, MK; Schmidt, G; Scott, C; Sharma, P; Soucy, P; Southey, MC; Spinelli, JJ; Steinsnyder, Z; Stone, J; Stoppa-Lyonnet, D; Swerdlow, A; Tamimi, RM; Tapper, WJ; Taylor, JA; Terry, MB; Teulé, A; Thull, DL; Tischkowitz, M; Toland, AE; Torres, D; Trainer, AH; Truong, T; Tung, N; Vachon, CM; Vega, A; Vijai, J; Wang, Q; Wappenschmidt, B; Weinberg, CR; Weitzel, JN; Wendt, C; Wolk, A; Yadav, S; Yang, XR; Yannoukakos, D; Zheng, W; Ziogas, A; Zorn, KK; Park, SK; Thomassen, M; Offit, K; Schmutzler, RK; Couch, FJ; Simard, J; Chenevix-Trench, G; Easton, DF; Andrieu, N; Antoniou, AC |
| 2021-05-14 | Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers. | Coignard, J; Lush, M; Beesley, J; O'Mara, TA; Dennis, J; Tyrer, JP; Barnes, DR; McGuffog, L; Leslie, G; Bolla, MK; Adank, MA; Agata, S; Ahearn, T; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Arndt, V; Arnold, N; Aronson, KJ; Arun, BK; Augustinsson, A; Azzollini, J; Barrowdale, D; Baynes, C; Becher, H; Bermisheva, M; Bernstein, L; Białkowska, K; Blomqvist, C; Bojesen, SE; Bonanni, B; Borg, A; Brauch, H; Brenner, H; Burwinkel, B; Buys, SS; Caldés, T; Caligo, MA; Campa, D; Carter, BD; Castelao, JE; Chang-Claude, J; Chanock, SJ; Chung, WK; Claes, KBM; Clarke, CL; GEMO Study Collaborators,; EMBRACE Collaborators,; Collée, JM; Conroy, DM; Czene, K; Daly, MB; Devilee, P; Diez, O; Ding, YC; Domchek, SM; Dörk, T; Dos-Santos-Silva, I; Dunning, AM; Dwek, M; Eccles, DM; Eliassen, AH; Engel, C; Eriksson, M; Evans, DG; Fasching, PA; Flyger, H; Fostira, F; Friedman, E; Fritschi, L; Frost, D; Gago-Dominguez, M; Gapstur, SM; Garber, J; Garcia-Barberan, V; García-Closas, M; García-Sáenz, JA; Gaudet, MM; Gayther, SA; Gehrig, A; Georgoulias, V; Giles, GG; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Greene, MH; Guénel, P; Haeberle, L; Hahnen, E; Haiman, CA; Håkansson, N; Hall, P; Hamann, U; Harrington, PA; Hart, SN; He, W; Hogervorst, FBL; Hollestelle, A; Hopper, JL; Horcasitas, DJ; Hulick, PJ; Hunter, DJ; Imyanitov, EN; KConFab Investigators,; HEBON Investigators,; ABCTB Investigators,; Jager, A; Jakubowska, A; James, PA; Jensen, UB; John, EM; Jones, ME; Kaaks, R; Kapoor, PM; Karlan, BY; Keeman, R; Khusnutdinova, E; Kiiski, JI; Ko, Y-D; Kosma, V-M; Kraft, P; Kurian, AW; Laitman, Y; Lambrechts, D; Le Marchand, L; Lester, J; Lesueur, F; Lindstrom, T; Lopez-Fernández, A; Loud, JT; Luccarini, C; Mannermaa, A; Manoukian, S; Margolin, S; Martens, JWM; Mebirouk, N; Meindl, A; Miller, A; Milne, RL; Montagna, M; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nielsen, FC; O'Brien, KM; Olopade, OI; Olson, JE; Olsson, H; Osorio, A; Ottini, L; Park-Simon, T-W; Parsons, MT; Pedersen, IS; Peshkin, B; Peterlongo, P; Peto, J; Pharoah, PDP; Phillips, K-A; Polley, EC; Poppe, B; Presneau, N; Pujana, MA; Punie, K; Radice, P; Rantala, J; Rashid, MU; Rennert, G; Rennert, HS; Robson, M; Romero, A; Rossing, M; Saloustros, E; Sandler, DP; Santella, R; Scheuner, MT; Schmidt, MK; Schmidt, G; Scott, C; Sharma, P; Soucy, P; Southey, MC; Spinelli, JJ; Steinsnyder, Z; Stone, J; Stoppa-Lyonnet, D; Swerdlow, A; Tamimi, RM; Tapper, WJ; Taylor, JA; Terry, MB; Teulé, A; Thull, DL; Tischkowitz, M; Toland, AE; Torres, D; Trainer, AH; Truong, T; Tung, N; Vachon, CM; Vega, A; Vijai, J; Wang, Q; Wappenschmidt, B; Weinberg, CR; Weitzel, JN; Wendt, C; Wolk, A; Yadav, S; Yang, XR; Yannoukakos, D; Zheng, W; Ziogas, A; Zorn, KK; Park, SK; Thomassen, M; Offit, K; Schmutzler, RK; Couch, FJ; Simard, J; Chenevix-Trench, G; Easton, DF; Andrieu, N; Antoniou, AC |
| 2022-07-29 | Clinical impact of whole-genome sequencing in patients with early-onset dementia. | Huq, AJ; Thompson, B; Bennett, MF; Bournazos, A; Bommireddipalli, S; Gorelik, A; Schultz, J; Sexton, A; Purvis, R; West, K; Cotter, M; Valente, G; Hughes, A; Riaz, M; Walsh, M; Farrand, S; Loi, SM; Kilpatrick, T; Brodtmann, A; Darby, D; Eratne, D; Walterfang, M; Delatycki, MB; Storey, E; Fahey, M; Cooper, S; Lacaze, P; Masters, CL; Velakoulis, D; Bahlo, M; James, PA; Winship, I |
| 2017-05 | Diagnostic and cost utility of whole exome sequencing in peripheral neuropathy. | Walsh, M; Bell, KM; Chong, B; Creed, E; Brett, GR; Pope, K; Thorne, NP; Sadedin, S; Georgeson, P; Phelan, DG; Day, T; Taylor, JA; Sexton, A; Lockhart, PJ; Kiers, L; Fahey, M; Macciocca, I; Gaff, CL; Oshlack, A; Yiu, EM; James, PA; Stark, Z; Ryan, MM; Melbourne Genomics Health Alliance, |
| 2021-06-25 | Evaluation of two population screening programmes for <i>BRCA1/2</i> founder mutations in the Australian Jewish community: a protocol paper. | Cousens, NE; Tiller, J; Meiser, B; Barlow-Stewart, K; Rowley, S; Ko, Y-A; Mahale, S; Campbell, IG; Kaur, R; Bankier, A; Burnett, L; Jacobs, C; James, PA; Trainer, A; Neil, S; Delatycki, MB; Andrews, L |
| 2021-05-30 | Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. | Pakdaman, Y; Berland, S; Bustad, HJ; Erdal, S; Thompson, BA; James, PA; Power, KN; Ellingsen, S; Krooni, M; Berge, LI; Sexton, A; Bindoff, LA; Knappskog, PM; Johansson, S; Aukrust, I |
| 2021-08 | Genetic testing in dementia-A medical genetics perspective. | Huq, AJ; Sexton, A; Lacaze, P; Masters, CL; Storey, E; Velakoulis, D; James, PA; Winship, IM |
| 2019-04-15 | Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer. | Ferreira, MA; Gamazon, ER; Al-Ejeh, F; Aittomäki, K; Andrulis, IL; Anton-Culver, H; Arason, A; Arndt, V; Aronson, KJ; Arun, BK; Asseryanis, E; Azzollini, J; Balmaña, J; Barnes, DR; Barrowdale, D; Beckmann, MW; Behrens, S; Benitez, J; Bermisheva, M; Białkowska, K; Blomqvist, C; Bogdanova, NV; Bojesen, SE; Bolla, MK; Borg, A; Brauch, H; Brenner, H; Broeks, A; Burwinkel, B; Caldés, T; Caligo, MA; Campa, D; Campbell, I; Canzian, F; Carter, J; Carter, BD; Castelao, JE; Chang-Claude, J; Chanock, SJ; Christiansen, H; Chung, WK; Claes, KBM; Clarke, CL; EMBRACE Collaborators,; GC-HBOC Study Collaborators,; GEMO Study Collaborators,; Couch, FJ; Cox, A; Cross, SS; Czene, K; Daly, MB; de la Hoya, M; Dennis, J; Devilee, P; Diez, O; Dörk, T; Dunning, AM; Dwek, M; Eccles, DM; Ejlertsen, B; Ellberg, C; Engel, C; Eriksson, M; Fasching, PA; Fletcher, O; Flyger, H; Friedman, E; Frost, D; Gabrielson, M; Gago-Dominguez, M; Ganz, PA; Gapstur, SM; Garber, J; García-Closas, M; García-Sáenz, JA; Gaudet, MM; Giles, GG; Glendon, G; Godwin, AK; Goldberg, MS; Goldgar, DE; González-Neira, A; Greene, MH; Gronwald, J; Guénel, P; Haiman, CA; Hall, P; Hamann, U; He, W; Heyworth, J; Hogervorst, FBL; Hollestelle, A; Hoover, RN; Hopper, JL; Hulick, PJ; Humphreys, K; Imyanitov, EN; ABCTB Investigators,; HEBON Investigators,; BCFR Investigators,; Isaacs, C; Jakimovska, M; Jakubowska, A; James, PA; Janavicius, R; Jankowitz, RC; John, EM; Johnson, N; Joseph, V; Karlan, BY; Khusnutdinova, E; Kiiski, JI; Ko, Y-D; Jones, ME; Konstantopoulou, I; Kristensen, VN; Laitman, Y; Lambrechts, D; Lazaro, C; Leslie, G; Lester, J; Lesueur, F; Lindström, S; Long, J; Loud, JT; Lubiński, J; Makalic, E; Mannermaa, A; Manoochehri, M; Margolin, S; Maurer, T; Mavroudis, D; McGuffog, L; Meindl, A; Menon, U; Michailidou, K; Miller, A; Montagna, M; Moreno, F; Moserle, L; Mulligan, AM; Nathanson, KL; Neuhausen, SL; Nevanlinna, H; Nevelsteen, I; Nielsen, FC; Nikitina-Zake, L; Nussbaum, RL; Offit, K; Olah, E; Olopade, OI; Olsson, H; Osorio, A; Papp, J; Park-Simon, T-W; Parsons, MT; Pedersen, IS; Peixoto, A; Peterlongo, P; Pharoah, PDP; Plaseska-Karanfilska, D; Poppe, B; Presneau, N; Radice, P; Rantala, J; Rennert, G; Risch, HA; Saloustros, E; Sanden, K; Sawyer, EJ; Schmidt, MK; Schmutzler, RK; Sharma, P; Shu, X-O; Simard, J; Singer, CF; Soucy, P; Southey, MC; Spinelli, JJ; Spurdle, AB; Stone, J; Swerdlow, AJ; Tapper, WJ; Taylor, JA; Teixeira, MR; Terry, MB; Teulé, A; Thomassen, M; Thöne, K; Thull, DL; Tischkowitz, M; Toland, AE; Torres, D; Truong, T; Tung, N; Vachon, CM; van Asperen, CJ; van den Ouweland, AMW; van Rensburg, EJ; Vega, A; Viel, A; Wang, Q; Wappenschmidt, B; Weitzel, JN; Wendt, C; Winqvist, R; Yang, XR; Yannoukakos, D; Ziogas, A; Kraft, P; Antoniou, AC; Zheng, W; Easton, DF; Milne, RL; Beesley, J; Chenevix-Trench, G |
| 2020-11-09 | Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility. | Tudini, E; Davidson, AL; Dressel, U; Andrews, L; Antill, Y; Crook, A; Field, M; Gattas, M; Harris, R; Kirk, J; Pachter, N; Salmon, L; Susman, R; Townshend, S; Trainer, AH; Tucker, KM; Mitchell, G; James, PA; Ward, RL; Mar Fan, H; Poplawski, NK; Spurdle, AB |
| 2022-02-01 | Metaphors and why these are important in all aspects of genetic counseling. | Sexton, A; James, PA |
| 2022-07 | Real world outcomes and implementation pathways of exome sequencing in an adult genetic department. | Walsh, M; West, K; Taylor, JA; Thompson, BA; Hopkins, A; Sexton, A; Ragunathan, A; Verma, KP; Panetta, J; Matotek, E; Fahey, MC; Christie, M; Winship, IM; Trainer, AH; James, PA |
| 2021-01-15 | The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective. | Eratne, D; Schneider, A; Lynch, E; Martyn, M; Velakoulis, D; Fahey, M; Kwan, P; Leventer, R; Rafehi, H; Chong, B; Stark, Z; Lunke, S; Phelan, DG; O'Keefe, M; Siemering, K; West, K; Sexton, A; Jarmolowicz, A; Taylor, JA; Schultz, J; Purvis, R; Uebergang, E; Chalinor, H; Creighton, B; Gelfand, N; Saks, T; Prawer, Y; Smagarinsky, Y; Pan, T; Goranitis, I; Ademi, Z; Gaff, C; Huq, A; Walsh, M; James, PA; Krzesinski, EI; Wallis, M; Stutterd, CA; Bahlo, M; Delatycki, MB; Berkovic, SF |
